Canonical Allele Identifier: CA393994964
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1478520353
gnomAD v2: 16-226767-G-A
gnomAD v4: 16-176768-G-A
MyVariant Identifiers: chr16:g.226767G>A (hg19) chr16:g.176768G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176768G>A , CM000678.2:g.176768G>A GRCh38
NC_000016.9:g.226767G>A , CM000678.1:g.226767G>A GRCh37
NC_000016.8:g.166767G>A NCBI36
NG_000006.1:g.37631G>A
NG_059186.1:g.5118G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.52G>A MANE Select ENSP00000322421.5:p.Val18Ile
ENST00000397797.1:c.-2+6G>A ENSP00000380899.1:n.-2+6G>A
ENST00000472694.1:n.71G>A
ENST00000487791.1:n.21G>A
NM_000558.4:c.52G>A NP_000549.1:p.Val18Ile
NM_000558.5:c.52G>A MANE Select NP_000549.1:p.Val18Ile
Search 100 bp 5'
Search 100 bp 3'